Bernard-Soulier Syndrome (BSS)

Bernard-Soulier Syndrome (BSS) is an autosomal recessive (AR) disorder characterized by a defective GP1b platelet receptor leading to a problematic platelet adhesion process (primary hemostasis).

Ristocetin Cofactor Assay (RIPA) is usually abnormal in cases of Bernard-Soulier Syndrome (BSS).
Bleeding time is prolonged, platelets are big in size, but few in number (Macrothrombocytopenia).

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Platelet count is one of the lab tests used by a doctor or a hematologist to assess whether your platelet number is normal, low (thrombocytopenia) or high (thrombocytosis).

Bleeding 🩸 time (BT) is another test for platelet function.

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